view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC14L6_chr22_30517799_30551741 | 30519418 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01081.hp2 others(4): Show |
a0001a0002a0003 | a0001c0004a0001c0007a0002c0022others(1): Show | a0001c0004t0002a0001c0007t0002a0002c0022t0002others(1): Show | a0001c0004t0002g0030 a0001c0004t0002g0138 a0001c0004t0002g0140 others(4): Show |
7 | 396 | 0.0177 | 5 | c.*55 others(16): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 3380 | chr22 | TogoVar | |||||||
SEC14L6_chr22_30517799_30551741 | 30531410 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(43): Show |
a0001a0008 | a0001c0003a0001c0014a0008c0018 | a0001c0003t0003a0001c0003t0010a0001c0003t0011others(8): Show | a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0020 others(35): Show |
46 | 396 | 0.1162 | 5 | c.519 others(20): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 6/11 | chr22 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123257995 | G | GAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 others(3): Show |
6 | 340 | 0.0177 | 5 | c.658 others(22): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22B_chr1_120145898_120181520 | 120163943 | C | CTCTTT | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0075a0001c0002t0076 | a0001c0002t0017g0025 a0001c0002t0075g0124 a0001c0002t0076g0123 |
5 | 380 | 0.0132 | 5 | c.186 others(20): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120163945 | C | CTCTCT | intron_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG01891.hp1 others(29): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0020others(9): Show | a0001c0002t0003g0024 a0001c0002t0003g0035 a0001c0002t0003g0036 others(24): Show |
32 | 380 | 0.0842 | 5 | c.186 others(20): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120170987 | C | CTTTAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(50): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010a0001c0002t0017others(8): Show | a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0022 others(24): Show |
53 | 380 | 0.1395 | 5 | c.76- others(20): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42564754 | G | GTGTTT | intron_variant | MODIFIER | HG00423.hp2 NA18939.hp1 NA18944.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0009 a0001c0001t0001g0209 a0005c0007t0001g0231 |
7 | 394 | 0.0178 | 5 | c.183 others(22): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39041409 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00642.hp2 others(22): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0024 a0001c0001t0001g0129 a0001c0001t0001g0132 others(22): Show |
25 | 366 | 0.0683 | 5 | c.198 others(22): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 17/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39059278 | T | TAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(36): Show |
a0001a0002a0006 | a0001c0003a0002c0002a0006c0008 | a0001c0003t0001a0002c0002t0001a0006c0008t0001 | a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0043 others(36): Show |
39 | 366 | 0.1066 | 5 | c.150 others(24): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18508716 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp1 others(23): Show |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0001c0001t0002a0010c0017t0001 | a0001c0001t0001g0004 a0001c0001t0001g0239 a0001c0001t0001g0240 others(19): Show |
26 | 410 | 0.0634 | 5 | c.-15 others(20): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23B_chr20_18502940_18566415 | 18518582 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 others(3): Show |
6 | 410 | 0.0146 | 5 | c.366 others(22): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23B_chr20_18502940_18566415 | 18564131 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02258.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 others(5): Show |
8 | 410 | 0.0195 | 5 | c.*33 others(16): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 2717 | chr20 | TogoVar | |||||||
SEC24A_chr5_134643785_134732909 | 134677550 | A | AAAAAG | intron_variant | MODIFIER | HG00738.hp1 HG02615.hp2 NA18946.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0008a0001c0001t0017others(1): Show | a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 others(7): Show |
10 | 318 | 0.0315 | 5 | c.125 others(24): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134709836 | G | GTTATT | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02055.hp2 others(13): Show |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0001c0001t0004a0006c0016t0004 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(13): Show |
16 | 318 | 0.0503 | 5 | c.272 others(22): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134725641 | C | CTAGAG | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(193): Show |
199 | 318 | 0.6258 | 5 | c.*54 others(14): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 23/23 | 550 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SEC24B_chr4_109428815_109545896 | 109462891 | G | GCTTTT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(218): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(216): Show |
221 | 222 | 0.9955 | 5 | c.134 others(16): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24C_chr10_73739372_73777161 | 73763667 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(25): Show |
a0001a0004a0011 | a0001c0001a0001c0003a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(18): Show |
28 | 322 | 0.0870 | 5 | c.109 others(20): Show |
SEC24C | ENSG00000176986.16 | transcript | ENST00000345254.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118751176 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0006a0003c0008others(1): Show | a0001c0010t0001a0002c0006t0001a0003c0008t0001others(1): Show | a0001c0010t0001g0005 a0001c0010t0001g0006 a0002c0006t0001g0051 others(7): Show |
10 | 300 | 0.0333 | 5 | c.170 others(22): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 13/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82821548 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(104): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(101): Show |
107 | 328 | 0.3262 | 5 | c.341 others(22): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 25/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82828673 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(78): Show |
a0001a0008a0012 | a0001c0001a0001c0003a0008c0013others(1): Show | a0001c0001t0001a0001c0003t0001a0008c0013t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(75): Show |
81 | 328 | 0.2470 | 5 | c.302 others(22): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 23/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82837199 | A | ATATAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(30): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(30): Show |
33 | 328 | 0.1006 | 5 | c.296 others(24): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82845461 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(81): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 others(80): Show |
84 | 328 | 0.2561 | 5 | c.250 others(22): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 20/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82872201 | A | ATTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(219): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(216): Show |
222 | 328 | 0.6768 | 5 | c.640 others(20): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 6/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82882401 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 others(5): Show |
8 | 328 | 0.0244 | 5 | c.-4- others(18): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82887388 | G | GAGAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(96): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0007a0001c0020others(4): Show | a0001c0002t0001a0001c0007t0001a0001c0020t0001others(4): Show | a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 others(96): Show |
99 | 328 | 0.3018 | 5 | c.-5+ others(20): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC61A1_chr3_128047437_128076683 | 128052398 | C | CCCGCG | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03540.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0002g0016 others(3): Show |
9 | 382 | 0.0236 | 5 | c.-15 others(14): Show |
SEC61A1 | ENSG00000058262.11 | transcript | ENST00000243253.8 | protein_coding | 38 | chr3 | TogoVar | |||||||
SEC61A1_chr3_128047437_128076683 | 128065732 | A | ATTTTT | intron_variant | MODIFIER | HG01928.hp1 HG02055.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0045 a0001c0001t0002g0047 others(3): Show |
7 | 382 | 0.0183 | 5 | c.777 others(20): Show |
SEC61A1 | ENSG00000058262.11 | transcript | ENST00000243253.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC61A1_chr3_128047437_128076683 | 128074842 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01192.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0016 others(4): Show |
33 | 382 | 0.0864 | 5 | c.*51 others(16): Show |
SEC61A1 | ENSG00000058262.11 | transcript | ENST00000243253.8 | protein_coding | 3160 | chr3 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12127557 | G | GACACA | upstream_gene_variant | MODIFIER | HG02074.hp1 NA18949.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0125 a0001c0002t0004g0034 a0001c0002t0004g0157 |
3 | 360 | 0.0083 | 5 | c.-22 others(16): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 2119 | chr10 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12127557 | G | GACACC | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01109.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(21): Show |
31 | 360 | 0.0861 | 5 | c.-22 others(16): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 2119 | chr10 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12127557 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG01070.hp1 HG02083.hp2 HG02165.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0260 a0001c0001t0002g0063 others(10): Show |
16 | 360 | 0.0444 | 5 | c.-22 others(16): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 2119 | chr10 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12131682 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01891.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0057 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | 360 | 0.0222 | 5 | c.8-1 others(18): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC61G_chr7_54747253_54764211 | 54761970 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0047 others(2): Show |
13 | 406 | 0.0320 | 5 | c.-28 others(16): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 2760 | chr7 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107930173 | C | CTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 HG02896.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0006 | a0001c0001t0001g0210 a0001c0001t0006g0211 a0001c0001t0006g0214 others(7): Show |
10 | 332 | 0.0301 | 5 | c.125 others(20): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12949442 | G | GTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG02015.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(10): Show |
14 | 388 | 0.0361 | 5 | c.111 others(22): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12962459 | C | CTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG02630.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 others(15): Show |
18 | 388 | 0.0464 | 5 | c.310 others(20): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12977856 | T | TTAAGA | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0214 others(1): Show |
4 | 388 | 0.0103 | 5 | c.621 others(20): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12981849 | C | CTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0085 others(5): Show |
8 | 388 | 0.0206 | 5 | c.762 others(20): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13888635 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG01981.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0191 others(5): Show |
8 | 324 | 0.0247 | 5 | c.550 others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13907742 | C | CTTTCT | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0317 others(1): Show |
4 | 324 | 0.0124 | 5 | c.549 others(22): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934473 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0177 others(17): Show |
21 | 324 | 0.0648 | 5 | c.115 others(22): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951296 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(105): Show |
108 | 324 | 0.3333 | 5 | c.114 others(22): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13965134 | A | ATACTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(306): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(305): Show |
309 | 324 | 0.9537 | 5 | c.59- others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13983023 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp1 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(4): Show | a0001c0001t0001g0154 a0001c0001t0001g0235 a0001c0001t0002g0002 others(44): Show |
47 | 324 | 0.1451 | 5 | c.58+ others(20): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25752108 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01074.hp2 others(57): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 others(57): Show |
60 | 312 | 0.1923 | 5 | c.326 others(24): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 23/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25755251 | T | TTTTTA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02083.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0077 a0001c0001t0001g0193 others(16): Show |
19 | 312 | 0.0609 | 5 | c.325 others(24): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 23/23 | chr4 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151361817 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02622.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0001a0002c0016t0001 | a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0073 others(5): Show |
10 | 438 | 0.0228 | 5 | c.*27 others(16): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 2486 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86880045 | T | TGTAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(89): Show |
102 | 226 | 0.4513 | 5 | c.316 others(20): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86913402 | C | CTTATT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(87): Show |
100 | 226 | 0.4425 | 5 | c.84+ others(18): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26381198 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0025 | a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0178 others(21): Show |
25 | 334 | 0.0749 | 5 | c.683 others(22): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |